GHRL (Ghrelin and Obestatin Prepropeptide)
Key regulator of appetite, energy balance, and growth hormone secretion
Gene Information Card
| Symbol | GHRL |
|---|---|
| Full Name | Ghrelin and Obestatin Prepropeptide |
| Gene Type | Protein coding |
| Chromosomal Location | 3p25.3 |
| NCBI Gene ID | 51738 ncbi.nlm.nih.gov/gene/51738 |
| Ensembl ID | ENSG00000157017 |
| UniProt ID | Q9UBU3 |
| OMIM ID | 605353 |
| HGNC ID | 18129 |
| Aliases | MOC, MTLRP, ghrelin, obestatin |
Description
The GHRL gene encodes a preproprotein that is cleaved to produce two bioactive peptides: ghrelin and obestatin. Ghrelin is a potent orexigenic hormone primarily secreted by the stomach, stimulating appetite and growth hormone release via the growth hormone secretagogue receptor (GHSR). Obestatin has opposing effects, reducing food intake and gastric emptying. GHRL is involved in energy balance, glucose metabolism, and gastrointestinal function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Obesity | Altered ghrelin levels contribute to hyperphagia and energy imbalance | PMID: 16959973 |
| Prader-Willi Syndrome | Elevated ghrelin levels associated with hyperphagia and obesity | PMID: 12679447 |
| Anorexia Nervosa | Increased ghrelin levels as compensatory response to undernutrition | PMID: 11701755 |
| Growth Hormone Deficiency | Reduced ghrelin signaling impairs GH secretion | PMID: 11502844 |
| Gastric Cancer | Aberrant GHRL methylation and expression in gastric tumors | PMID: 20601957 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Stomach | 124.3 | High |
| Pancreas | 12.1 | Medium |
| Small Intestine | 8.5 | Medium |
| Colon | 3.2 | Low |
| Hypothalamus | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MKN45 (gastric cancer) | 15.2 | High expression |
| HepG2 (hepatocellular) | 2.1 | Low expression |
| Caco-2 (colorectal) | 1.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.247G>A (p.Ala83Thr) | Missense | <0.01% | Reduced ghrelin stability |
| c.269C>T (p.Pro90Leu) | Missense | <0.01% | Altered peptide processing |
| c.408_409insC | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.408_409insC) lead to truncated protein and loss of ghrelin/obestatin production.
Gain of Function (GOF)
Not well documented; no common gain-of-function variants reported.
Dominant Negative (DN)
Not described for GHRL.
View complete mutation data：
Gene Ontology (GO)
| • hormone activity (GO:0005179) | • neuropeptide signaling pathway (GO:0007218) |
| • response to insulin (GO:0032868) | • glucose homeostasis (GO:0042593) |
| • adult feeding behavior (GO:0008343) |
Pathways
• Ghrelin signaling pathway (Reactome: R-HSA-422085)
• Growth hormone secretion (KEGG: hsa04930)
Protein Summary
The GHRL preproprotein (117 aa) is processed into ghrelin (28 aa) and obestatin (23 aa). Ghrelin is acylated at Ser3 by ghrelin O-acyltransferase (GOAT), essential for GHSR binding. Obestatin binds GPR39. Both peptides regulate appetite, energy expenditure, and gastrointestinal motility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GHRL Knockout HEK293 Cell Line | EDJ-KQ1782 | Human | 51738 | Details Get a Quote |
| GHRL Knockout HeLa Cell Line | EDJ-KQ56355 | Human | 51738 | Details Get a Quote |
| GHRL Knockout A-549 Cell Line | EDJ-KQ64845 | Human | 51738 | Details Get a Quote |
| GHRL Knockout HCT 116 Cell Line | EDJ-KQ73289 | Human | 51738 | Details Get a Quote |
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